Disease: Cholestasis, progressive familial intrahepatic 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cholestasis, progressive familial intrahepatic 1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
0.700 GeneticVariation UNIPROT Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis. 23197899 2012
Cholestasis, progressive familial intrahepatic 1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
0.700 GeneticVariation UNIPROT Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. 20038848 2010
Cholestasis, progressive familial intrahepatic 1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
0.700 GeneticVariation UNIPROT Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. 19731236 2009
Cholestasis, progressive familial intrahepatic 1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
0.700 GeneticVariation UNIPROT Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 15239083 2004
Cholestasis, progressive familial intrahepatic 1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
0.700 GeneticVariation UNIPROT A missense mutation in FIC1 is associated with greenland familial cholestasis. 11093741 2000
Cholestasis, progressive familial intrahepatic 1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
0.700 GeneticVariation UNIPROT A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. 9500542 1998